L39P (p.Leu39Pro) variant of PRPH2 (Peripherin-2)
L39P (p.Leu39Pro) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- rs2152011095
- ClinGen CA364138738
- ClinVar RCV001530291
- Ensembl rs2152011095
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.85
- CADD 27.40
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available